日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma

复发性 KBTBD4 小框内插入突变以及 DROSHA 缺失或 DICER1 突变的缺失可将中间分化松果体实质肿瘤 (PPTID) 与松果体母细胞瘤区分开来。

Lee, Julieann C; Mazor, Tali; Lao, Richard; Wan, Eunice; Diallo, Alpha B; Hill, Nicholas S; Thangaraj, Naina; Wendelsdorf, Katherine; Samuel, David; Kline, Cassie N; Banerjee, Anuradha; Auguste, Kurtis; Raffel, Corey; Gupta, Nalin; Berger, Mitchel; Raleigh, David R; Shai, Anny; Phillips, Joanna J; Bollen, Andrew W; Tihan, Tarik; Perry, Arie; Costello, Joseph; Solomon, David A

Molecular convergence of neurodevelopmental disorders

神经发育障碍的分子融合

Elizabeth S Chen, Carolina O Gigek, Jill A Rosenfeld, Alpha B Diallo, Gilles Maussion, Gary G Chen, Kathryn Vaillancourt, Juan P Lopez, Liam Crapper, Raphaël Poujol, Lisa G Shaffer, Guillaume Bourque, Carl Ernst

Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities

神经发育障碍患者体内大型基因间非编码RNA的破坏

Talkowski, Michael E; Maussion, Gilles; Crapper, Liam; Rosenfeld, Jill A; Blumenthal, Ian; Hanscom, Carrie; Chiang, Colby; Lindgren, Amelia; Pereira, Shahrin; Ruderfer, Douglas; Diallo, Alpha B; Lopez, Juan Pablo; Turecki, Gustavo; Chen, Elizabeth S; Gigek, Carolina; Harris, David J; Lip, Va; An, Yu; Biagioli, Marta; Macdonald, Marcy E; Lin, Michael; Haggarty, Stephen J; Sklar, Pamela; Purcell, Shaun; Kellis, Manolis; Schwartz, Stuart; Shaffer, Lisa G; Natowicz, Marvin R; Shen, Yiping; Morton, Cynthia C; Gusella, James F; Ernst, Carl

Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity

人类精神病理学和肥胖症中,包括脑源性神经营养因子(BDNF)在内的关键区域的高外显率改变

Ernst, Carl; Marshall, Christian R; Shen, Yiping; Metcalfe, Kay; Rosenfeld, Jill; Hodge, Jennelle C; Torres, Alcy; Blumenthal, Ian; Chiang, Colby; Pillalamarri, Vamsee; Crapper, Liam; Diallo, Alpha B; Ruderfer, Douglas; Pereira, Shahrin; Sklar, Pamela; Purcell, Shaun; Wildin, Robert S; Spencer, Anne C; Quade, Bradley F; Harris, David J; Lemyre, Emanuelle; Wu, Bai-Lin; Stavropoulos, Dimitri J; Geraghty, Michael T; Shaffer, Lisa G; Morton, Cynthia C; Scherer, Stephen W; Gusella, James F; Talkowski, Michael E